A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16041341



Internal ID6043157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:32855504..32856960hg38UCSC Ensembl
Innerchr19:32855560..32856904hg38UCSC Ensembl
Outerchr19:32855448..32857016hg38UCSC Ensembl
chr19:33346410..33347866hg19UCSC Ensembl
Innerchr19:33346466..33347810hg19UCSC Ensembl
Outerchr19:33346354..33347922hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg381457
hg191457
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644179
Supporting Variants
SamplesHG03103
Known GenesSLC7A9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16041341
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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